Baylor researchers find new genetic test helped provide a diagnosis to 25 percent of the first 250 such patients referred to the Baylor Whole Genome Laboratory, demonstrating the value of such technology to individual patients.

In a report that appeared in the journal Nature, a consortium of researchers including those at Baylor College of Medicine describe an enzyme called Pif1 that promotes the extensive DNA synthesis that occurs through a specific mechanism called D-loop migra

Using genome-wide sequencing along with personalized functional genomics, researchers led by those at Baylor College of Medicine have identified mutations in a gene called FBXL4 revealing it as a novel cause of primary mitochondrial disease.